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NM_001042492.3(NF1):c.3975-1922_4174-2448delinsTTTACTTAGGT AND Neurofibromatosis, type 1

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000200913.3

Allele description [Variation Report for NM_001042492.3(NF1):c.3975-1922_4174-2448delinsTTTACTTAGGT]

NM_001042492.3(NF1):c.3975-1922_4174-2448delinsTTTACTTAGGT

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.3975-1922_4174-2448delinsTTTACTTAGGT
HGVS:
  • NC_000017.11:g.31247062_31255896delinsTTTACTTAGGT
  • NG_009018.1:g.157086_165920delinsTTTACTTAGGT
  • NM_000267.3:c.3975-1922_4111-2448delinsTTTACTTAGGT
  • NM_001042492.3:c.3975-1922_4174-2448delinsTTTACTTAGGTMANE SELECT
  • LRG_214t1:c.3975-1922_4111-2448delinsTTTACTTAGGT
  • LRG_214:g.157086_165920delinsTTTACTTAGGT
  • NC_000017.10:g.29574080_29582914delinsTTTACTTAGGT
Molecular consequence:
  • NM_000267.3:c.3975-1922_4111-2448delinsTTTACTTAGGT - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001042492.3:c.3975-1922_4174-2448delinsTTTACTTAGGT - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000267.3:c.3975-1922_4111-2448delinsTTTACTTAGGT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001042492.3:c.3975-1922_4174-2448delinsTTTACTTAGGT - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Neurofibromatosis, type 1 (NF1)
Synonyms:
NEUROFIBROMATOSIS, TYPE I; Recklinghausen's disease; Von Recklinghausen disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000255558UAB Medical Genomics Laboratory, UAB Medicine
no assertion criteria provided
Pathogenicde novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Decoding NF1 Intragenic Copy-Number Variations.

Hsiao MC, Piotrowski A, Callens T, Fu C, Wimmer K, Claes KB, Messiaen L.

Am J Hum Genet. 2015 Aug 6;97(2):238-49. doi: 10.1016/j.ajhg.2015.06.002. Epub 2015 Jul 16.

PubMed [citation]
PMID:
26189818
PMCID:
PMC4573439

Details of each submission

From UAB Medical Genomics Laboratory, UAB Medicine, SCV000255558.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providedbloodnot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2024